Identification of the CFTR c.1666A>G Mutation in Hereditary Inclusion Body Myopathy Using Next-Generation Sequencing Analysis

Hereditary Inclusion Body Myopathy (HIBM) is a rare autosomal dominant or recessive adult onset muscle disease which affects one to three individuals per million worldwide. This disease is autosomal dominant or recessive and occurs in adulthood. Our previous study reported a new subtype of HIBM link...

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Detalles Bibliográficos
Autores principales: Lu, Yan, Da, Yu-Wei, Zhang, Yong-Biao, Li, Xin-Gang, Wang, Min, Di, Li, Pang, Mi, Lei, Lin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5972215/
https://www.ncbi.nlm.nih.gov/pubmed/29872374
http://dx.doi.org/10.3389/fnins.2018.00329

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5972215/
https://www.ncbi.nlm.nih.gov/pubmed/29872374
http://dx.doi.org/10.3389/fnins.2018.00329

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